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Latest Channelopathy Stories

2012-07-12 23:01:25

Sophion and CreaCell announced today that the two companies successfully demonstrated the performances of HEK-hKir2.1 cells on QPatch HT. (PRWEB) July 12, 2012 Inward rectifier potassium channels of the Kir2 subfamily are important determinants of the electrical activity of cardiac cells, and mutations of the Kir2.1 channels are associated with familial atrial fibrillation, Andersen-Tawil syndrome and short-QT syndrome. Because human Kir2.1 is a relevant target in preclinical cardiac...

Susceptibility Genes Can Be Revealed From Exome Sequencing Of Health Condition Extremes
2012-07-09 10:55:33

DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making...

2012-06-26 11:50:07

Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation. IUFD is responsible for 60% of perinatal mortality and occurs in about one in every two hundred pregnancies in Europe. Up to half of these stillbirths are unexplained. Now scientists from Italy, Germany, and the US have found that up to 8% of these unexplained deaths may be caused by...

2012-06-02 23:02:02

Lindsey Duquette contracted the incurable kidney disease at age two. Her father, Jim Duquette, former Baltimore Orioles executive and New York Mets general manager, is a member of the board of directors of The NephCure Foundation, which funds research into the disease. The operation is set for June 4 at Johns Hopkins University in Baltimore. Baltimore, MD (PRWEB) June 01, 2012 Former New York Mets and Baltimore Orioles executive and current MLB Radio host Jim Duquette will be donating his...

2012-05-08 15:27:53

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website. After 20 years of promising research, testing in animal models, and initial clinical trial...

2012-04-07 23:02:24

Emily´s Entourage has announced a charity auction for two tickets to American Idol to benefit the Cystic Fibrosis Foundation after donating over $80,000 from their t-shirt fundraiser. The tickets up for bid are for the May 9, 2012 show and are currently up for bid on CharityBuzz under Emily´s Entourage. (link below) Philadelphia, PA (PRWEB) April 06, 2012 Following up their successful t-shirt fundraiser benefiting the Cystic Fibrosis Foundation through the sale of custom t-shirts,...

2012-04-05 23:01:07

Philadelphia area Cystic Fibrosis fundraiser Emily's Entourage has had a successful t-shirt fundraiser yielding both money and awareness for the Cystic Fibrosis Foundation through the sale of custom t-shirts by US screen printers, Rush Order Tees. Rush Order Tees printed the t-shirts for fundraising and promoted their availability through social media in coordination with the non-profit charitable organization Emily´s Entourage. Philadelhpia, PA (PRWEB) April 05, 2012 The Cystic...


Latest Channelopathy Reference Libraries

Cystic Fibrosis
2013-07-19 15:03:45

Cystic fibrosis, also called mucoviscidosis, is an autosomal recessive genetic disorder of the viscous secretions in the body. In turn, it effects the lungs, pancreas, liver, and intestines, as well as all other exocrine glands in the body. The most common genetic mutation that causes CF is a deletion of three nucleotides that results in a loss of phenylalanine, an amino acid at the 508th position on the protein. It should be noted, however, that there are over a thousand other mutations that...

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Word of the Day
monteith
  • A large punch-bowl of the eighteenth century, usually of silver and with a movable rim, and decorated with flutings and a scalloped edge. It was also used for cooling and carrying wine-glasses.
  • A kind of cotton handkerchief having white spots on a colored ground, the spots being produced by a chemical which discharges the color.
This word is possibly named after Monteith (Monteigh), 'an eccentric 17th-century Scotsman who wore a cloak scalloped at the hem.'
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